Genetic testing for schwannomatosis is available and may be appropriate for some people. The current test identifies a mutation in the SMARCB1 gene, which predisposes an individual to developing the disorder. Because some cases of schwannomatosis are not caused by a mutation in the SMARCB1 gene – and inheritance patterns for the disorder are complex – genetic testing is not always conclusive.

Advanced Genetic Testing for Schwannomatosis at the UAB Medical Genomics Laboratory

Genetic testing directly sequences the SMARCB1 gene to identify mutations associated with schwannomatosis. The UAB Medical Genomics Laboratory offers the most scientifically reliable and advanced genetic testing techniques currently available for the diagnosis and characterization of SMARCB1 mutations. This state-of-the-art laboratory performs the highest volume of neurofibromatosis genetic testing in the world and has also developed the most widely used approach to testing.

Genetic testing for schwannomatosis might be appropriate for the following individuals:

• People who want to confirm either a clinical diagnosis or a suspected case of schwannomatosis
• Those at risk of developing schwannomatosis who are interested in early detection

The Role of Genetic Counseling

A genetic counselor – who has specialized training in medical genetics and counseling – can help families make informed decisions about whether genetic testing right for them. The UAB Neurofibromatosis Program provides access to a team of experienced genetic counselors who can help families learn more about genetic testing for schwannomatosis and provide support to assist in adapting to a new diagnosis.

Also, a genetic counselor can provide information and guidance in the following key areas:

• Provide information about the complex genetics and inheritance patterns involved in schwannomatosis
• Explain the testing options available to you and discuss the benefits and limits of genetic testing
• Interpret and explain the result of genetic testing for schwannomatosis